Canonical Allele Identifier: CA397726111

Gene: ACADVL

Linked Data

• dbSNP Id: rs2142991172
• MyVariant Identifiers: chr17:g.7128336C>T (hg19) ; chr17:g.7225017C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7225017C>T , CM000679.2:g.7225017C>T	GRCh38
NC_000017.10:g.7128336C>T , CM000679.1:g.7128336C>T	GRCh37
NC_000017.9:g.7069060C>T	NCBI36
NG_007975.1:g.10184C>T
NG_008391.2:g.34G>A
NG_033038.1:g.14528G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.1888C>T MANE Select	ENSP00000349297.5:p.Leu630Phe
ENST00000322910.9:c.*1843C>T	ENSP00000325395.5:n.*1843C>T
ENST00000350303.9:c.1822C>T	ENSP00000344152.5:p.Leu608Phe
ENST00000356839.9:c.1888C>T	ENSP00000349297.5:p.Leu630Phe
ENST00000542255.6:c.767C>T
ENST00000543245.6:c.1957C>T	ENSP00000438689.2:p.Leu653Phe
ENST00000578033.1:n.313C>T
ENST00000578319.5:n.469C>T
ENST00000578711.1:n.1513C>T
ENST00000578809.5:n.460C>T
ENST00000579425.5:n.1004C>T
ENST00000583848.5:c.254C>T	ENSP00000466487.1:n.254C>T
ENST00000583850.5:n.659C>T
ENST00000583858.5:c.819C>T
NM_000018.3:c.1888C>T	NP_000009.1:p.Leu630Phe
NM_001033859.2:c.1822C>T	NP_001029031.1:p.Leu608Phe
NM_001270447.1:c.1957C>T	NP_001257376.1:p.Leu653Phe
NM_001270448.1:c.1660C>T	NP_001257377.1:p.Leu554Phe
XM_006721516.2:c.1909C>T	XP_006721579.2:p.Leu637Phe
XM_011523829.1:c.1807C>T	XP_011522131.1:p.Leu603Phe
XM_011523830.1:c.1786C>T	XP_011522132.1:p.Leu596Phe
XR_934021.1:n.1991C>T
XR_934022.1:n.1897C>T
XR_934023.1:n.1918C>T
XM_006721516.3:c.1909C>T	XP_006721579.2:p.Leu637Phe
XM_011523829.2:c.1807C>T	XP_011522131.1:p.Leu603Phe
XM_011523830.2:c.1786C>T	XP_011522132.1:p.Leu596Phe
XM_024450741.1:c.1876C>T	XP_024306509.1:p.Leu626Phe
XR_934021.2:n.1943C>T
XR_934022.2:n.1849C>T
XR_934023.2:n.1870C>T
NM_000018.4:c.1888C>T MANE Select	NP_000009.1:p.Leu630Phe
NM_001033859.3:c.1822C>T	NP_001029031.1:p.Leu608Phe
NM_001270447.2:c.1957C>T	NP_001257376.1:p.Leu653Phe
NM_001270448.2:c.1660C>T	NP_001257377.1:p.Leu554Phe